Health and Fitness

Chaple Syndrome Overview Chaple Syndrome is a rare genetic condition that affects the body's ability to regulate certain biological processes. This disorder can have a significant impact on overall health, leading to various complications and challenges for those affected. Understanding the underlying mechanisms of Chaple Syndrome is crucial in managing its effects and providing appropriate care and support to individuals living with this condition. Symptoms Chaple Syndrome typically presents with a range of distinctive symptoms affecting various body systems. Intellectual disability : Intellectual disability is a developmental condition characterized by limitations in intellectual functioning and adaptive behaviour. It can result from various factors, including genetic disorders, brain injury, or complications during birth. Symptoms often include difficulty with reasoning, learning, and everyday functioning. Speech delay Behavioral problems Facial dysmorphism Growth retardation Se...

Cerebellar ataxia Ataxia describes poor muscle control that causes clumsy movements. It can affect walking and balance, hand coordination, speech and swallowing, and eye movements. Ataxia usually results from damage to the part of the brain called the cerebellum or its connections. The cerebellum controls muscle coordination. Many conditions can cause ataxia, including genetic conditions, stroke, tumors, multiple sclerosis, degenerative diseases and alcohol misuse. Certain medicines also can cause ataxia. Treatment for ataxia depends on the cause. Devices such as walkers and canes might help maintain independence. These also are called adaptive devices. Physical therapy, occupational therapy, speech therapy and regular exercise also might help. Symptoms Ataxia symptoms can develop over time or start suddenly. Ataxia can be a symptom of several nervous system conditions. Symptoms may include: Poor coordination. Walking unsteadily or with the feet set wide apart. Poor balance. Trouble wi...

Ankylosing spondylitis Overview Ankylosing spondylitis, also known as axial spondylarthritis, is an inflammatory disease that, over time, can cause some of the bones in the spine, called vertebrae, to fuse. This fusing makes the spine less flexible and can result in a hunched posture. If ribs are affected, it can be difficult to breathe deeply. Axial spondylarthritis has two types. When the condition is found on X-ray, it is called ankylosing spondylitis, also known as axial spondyloarthritis. When the condition can't be seen on X-ray but is found based on symptoms, blood tests and other imaging tests, it is called nonradiographic axial spondyloarthritis. Symptoms typically begin in early adulthood. Inflammation also can occur in other parts of the body — most commonly, the eyes. There is no cure for ankylosing spondylitis, but treatments can lessen symptoms and possibly slow progression of the disease. Symptoms Early symptoms of ankylosing spondylitis might include back pain and s...

Aneurysm Overview An aneurysm is a weak or expanded part of an artery, like a bulge in a balloon. Your arteries are large blood vessels that carry oxygenated blood from your heart to other parts of your body. If an area in an artery wall weakens, the force of blood pumping through can result in a bulge or aneurysm. Aneurysms usually aren’t painful. You might not know you have one unless it ruptures or bursts. If it does, it can be very dangerous or even fatal. What are the different types of aneurysms? An aneurysm can form in any of the arteries in your body. Aneurysms can occur in your heart, abdomen, brain or legs. The location determines the type of aneurysm. Aortic aneurysms are by far the most common. They form in your aorta, your body’s largest artery. Your aorta carries blood out of your heart. Aneurysms that develop in arteries other than your aorta are called peripheral aneurysms. Types of aneurysms include: Abdominal aortic aneurysm (AAA): Abdominal aortic aneurysms may form...

  Arteriovenous malformation Overview An arteriovenous malformation, also known as an AVM, is a tangle of blood vessels that creates irregular connections between arteries and veins. This disrupts blood flow and prevents tissues from receiving oxygen. An AVM can occur anywhere in the body, including in the brain. Arteries move oxygen-rich blood from the heart to the brain and other organs. Veins drain the oxygen-depleted blood back to the lungs and heart. When an AVM disrupts this critical process, surrounding tissues might not get enough oxygen. Because the tangled blood vessels in an AVM do not form properly, they can weaken and burst. If an AVM in the brain bursts, it can cause bleeding in the brain, which can lead to a stroke or brain damage. Bleeding in the brain is known as a hemorrhage. Types of AVMs The two types of AVMs are: Brain arteriovenous malformations. These develop anywhere within your brain tissue or on the surface of your brain. AVMs most commonly occur in your ...

Overview Nephrotic syndrome is a kidney disorder that causes your body to pass too much protein in your urine. Nephrotic syndrome is usually caused by damage to the clusters of small blood vessels in your kidneys that filter waste and excess water from your blood. The condition causes swelling, particularly in your feet and ankles, and increases the risk of other health problems. Kidney cross section The kidneys remove waste and excess fluid from your blood through filtering units called nephrons. Each nephron contains a filter (glomerulus) that has a network of tiny blood vessels called capillaries. When blood flows into a glomerulus, tiny molecules — water, essential minerals and nutrients, and wastes — pass through the capillary walls. Large molecules, such as proteins and red blood cells, do not. The filtered solution then passes into another part of the nephron called the tubule. The water, nutrients and minerals your body needs are transferred back to the bloodstream. The excess ...

Brooke-Spiegler Syndrome Overview Brooke-Spiegler syndrome (BSS) is a rare type of skin condition. BSS causes tumors on the skin of your face, neck and scalp. Tumors may also grow on other parts of your body. They tend to appear in your teens or early 20s. These tumors are usually noncancerous (benign). But they can sometimes become cancerous (malignant) over time. Large, noncancerous tumors may become open wounds, at risk of infection. You usually inherit Brooke-Spiegler syndrome from your biological parents (a genetic condition). But sometimes, people with no family history of BSS have the condition. Providers often treat Brooke-Spiegler syndrome with surgery. With proper treatment, most people with BSS can continue to lead full and active lives. What are other names for Brooke-Spiegler syndrome? Brooke-Spiegler syndrome is also called: Ancell-Spiegler cylindromas. CYLD cutaneous syndrome (CCS). Familial cylindromatosis (FC). Multiple familial trichoepitheliomas (MFT). Spiegler-Brook...

Autosomal Recessive Polycystic Kidney Disease Overview Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged kidneys during the newborn (neonatal) period and some cases may be fatal at this time. ARPKD is not simply a kidney disease and additional organ systems of the body may also be affected, especially the liver. High blood pressure (hypertension), excessive thirst, frequent urination and feeding difficulties may also occur. Some affected children may also have distinctive facial features and incomplete development of the lungs (pulmonary hypoplasia) causing breathing (respiratory) difficulties. The severity of the disorder and the specific symptoms that occur can vary greatly from one person to another. Some affected children eventually develop end-stage renal disease sometime during the first decade of life. In some patients, symptoms do not de...